PRICKLE1 progressive myoclonus epilepsy in Southern Italy
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference6 articles.
1. A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome;Bassuk;Am J Hum Genet,2008
2. A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping;Berkovic;Brain,2005
3. A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan;El-Shanti;Brain Dev,2006
4. An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures;Straussberg;Neurology,2005
5. Mitochondrial DNA mutations in human disease;Di Mauro;Am J Med Genet,2001
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